{
    "disease_id": "DOID:0110734",
    "recommended_name": {
        "id": "DOID:0110734",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110734",
        "name": "neurodegeneration with brain iron accumulation",
        "description": "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia."
    },
    "synonyms": [
        {
            "id": "DOID:0110734",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110734",
            "name": "NBIA",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "pantothenate kinase-associated neurodegeneration",
            "description": "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system."
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "brain iron accumulation type I syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "Hallervorden-Spatz disease",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "Hallervorden-Spatz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "NBIA1",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "PKAN",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "neurodegeneration with brain iron accumulation 1",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "neurodegeneration with brain iron accumulation type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "pantothenate kinase-associated neurodegeneration",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "pigmentary pallidal degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0009319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "name": "neuroaxonal dystrophy, late infantile",
            "description": ""
        },
        {
            "id": "MIM:234200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/234200",
            "name": "Neurodegeneration with brain iron accumulation 1",
            "description": "Neurodegeneration with brain iron accumulation 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0110735",
            "label": "neurodegeneration with brain iron accumulation 2a",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110736",
            "label": "neurodegeneration with brain iron accumulation 2b",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110737",
            "label": "neurodegeneration with brain iron accumulation 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110738",
            "label": "neurodegeneration with brain iron accumulation 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110739",
            "label": "neurodegeneration with brain iron accumulation 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110740",
            "label": "neurodegeneration with brain iron accumulation 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:3981",
            "label": "pantothenate kinase-associated neurodegeneration",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110739",
        "DOID:0110740",
        "DOID:0110735",
        "DOID:0110737",
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        "DOID:0110736",
        "DOID:0110738",
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    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110734",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110734",
            "categories": []
        },
        {
            "id": "MONDO:0009319",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009319",
            "categories": []
        },
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            "id": "MIM:234200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/234200",
            "categories": []
        }
    ],
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                    "type": "synonym"
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                    "type": "synonym"
                },
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                    "type": "synonym"
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                    "name": "carnitine acetyltransferase",
                    "type": "synonym"
                }
            ],
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                    "name": "cratb",
                    "type": "recommended"
                },
                {
                    "name": "cratb",
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                    "type": "synonym"
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                    "name": "wu:fc39c02",
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                {
                    "name": "zgc:92131",
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                }
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                    "id": "0110734",
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                }
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                }
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                    "name": "reps1",
                    "type": "synonym"
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                    "name": "si:dkey-217m5.1",
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                {
                    "name": "wu:fj85c06",
                    "type": "synonym"
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                    "id": "0110734",
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                }
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        },
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                    "name": "Danio rerio",
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                }
            ],
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                {
                    "name": "Acyl carrier protein",
                    "type": "recommended"
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                {
                    "name": "NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1b",
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                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase subunit AB1b",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ndufab1b",
                    "type": "recommended"
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                    "name": "ndufab1b",
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                {
                    "name": "ndufab1",
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                {
                    "name": "wu:fd05g01",
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                {
                    "id": "0110734",
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                }
            ]
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        {
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "2.3.1.137",
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                    "name": "2.3.1.7",
                    "type": "synonym"
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                    "name": "CAT",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine acetylase",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine acetyltransferase",
                    "type": "synonym"
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                {
                    "name": "CrAT",
                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "carnitine acetylase",
                    "type": "synonym"
                }
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                    "name": "Crat",
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                {
                    "name": "CARAT",
                    "type": "synonym"
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                    "name": "Crat",
                    "type": "synonym"
                }
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                {
                    "id": "0110734",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Ferritin heavy chain",
                    "type": "recommended"
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                    "name": "1.16.3.1",
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                    "name": "Ferritin H subunit",
                    "type": "synonym"
                },
                {
                    "name": "H-ferritin",
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                    "name": "Hft",
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                    "name": "ferritin heavy chain 1",
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                    "name": "Fth1",
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                    "name": "Fth",
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                {
                    "name": "HFt",
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                    "id": "0110734",
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                    "name": "2610003B19Rik",
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                    "id": "0110734",
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                    "name": "Pantothenate kinase 2, mitochondrial",
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                    "name": "Hallervorden-Spatz syndrome",
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                    "name": "Pantothenic acid kinase 2",
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                    "name": "HSS",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                }
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                    "name": "2.3.1.7",
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                {
                    "name": "Carnitine acetylase",
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                {
                    "name": "carnitine O-acetyltransferase CAT2",
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    "association_flag": "1000",
    "record_id": "doid.0110734"
}